F129S (p.Phe129Ser) variant of PCDH19 (Protocadherin-19)
F129S (p.Phe129Ser) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
F129S (p.Phe129Ser) variant details
- p.Phe129Ser
- rs1602638047
- ClinGen CA414010141
- ClinVar RCV000810075
- Ensembl rs1602638047
- Uncertain significance
- Developmental and epileptic encephalopathy, 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- AlphaMissense 1.00
- MetaLR 0.33
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available